Canonical Allele Identifier: CA150810

Gene: ADA2

Linked Data

• ClinVar Variation Id: 120304
• ClinVar RCV Id: RCV002262705 ; RCV002498474 ; RCV003445509
• dbSNP Id: rs202134424
• ExAC: 22:17690429 C / T
• gnomAD v2: 22-17690429-C-T
• gnomAD v3: 22-17209539-C-T
• gnomAD v4: 22-17209539-C-T
• MyVariant Identifiers: chr22:g.17690429C>T (hg19) ; chr22:g.17209539C>T (hg38)
• PubMed: PMID:24552284 ; PMID:24552285

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17209539C>T , CM000684.2:g.17209539C>T	GRCh38
NC_000022.10:g.17690429C>T , CM000684.1:g.17690429C>T	GRCh37
NC_000022.9:g.16070429C>T	NCBI36
NG_033943.1:g.17316G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449907.8:c.13G>A	ENSP00000406443.2:p.Gly5Arg
ENST00000543038.2:c.139G>A	ENSP00000442482.2:p.Gly47Arg
ENST00000610390.5:c.-38-2249G>A	ENSP00000483418.1:n.-38-2249G>A
ENST00000649310.2:c.139G>A	ENSP00000496839.2:p.Gly47Arg
ENST00000649746.2:c.139G>A	ENSP00000497913.2:p.Gly47Arg
ENST00000649915.2:c.139G>A	ENSP00000497681.2:p.Gly47Arg
ENST00000696196.1:c.139G>A	ENSP00000512479.1:p.Gly47Arg
ENST00000696197.1:c.139G>A	ENSP00000512480.1:p.Gly47Arg
ENST00000696225.1:c.139G>A	ENSP00000512491.1:p.Gly47Arg
ENST00000696226.1:c.139G>A	ENSP00000512492.1:p.Gly47Arg
ENST00000696227.1:c.139G>A	ENSP00000512493.1:p.Gly47Arg
ENST00000399837.8:c.139G>A MANE Select	ENSP00000382731.2:p.Gly47Arg
ENST00000449907.7:c.13G>A	ENSP00000406443.2:p.Gly5Arg
ENST00000649540.1:c.13G>A	ENSP00000497469.1:p.Gly5Arg
ENST00000650635.1:n.139G>A
ENST00000262607.3:c.139G>A	ENSP00000262607.2:p.Gly47Arg
ENST00000399837.6:c.139G>A	ENSP00000382731.2:p.Gly47Arg
ENST00000399839.5:c.139G>A	ENSP00000382733.1:p.Gly47Arg
ENST00000441548.1:c.139G>A	ENSP00000392078.1:p.Gly47Arg
ENST00000449907.6:c.13G>A	ENSP00000406443.2:p.Gly5Arg
ENST00000543038.1:c.139G>A	ENSP00000442482.1:p.Gly47Arg
ENST00000610390.4:c.-38-2249G>A	ENSP00000483418.1:n.-38-2249G>A
NM_001282225.1:c.139G>A	NP_001269154.1:p.Gly47Arg
NM_001282226.1:c.139G>A	NP_001269155.1:p.Gly47Arg
NM_001282227.1:c.13G>A	NP_001269156.1:p.Gly5Arg
NM_001282228.1:c.13G>A	NP_001269157.1:p.Gly5Arg
NM_001282229.1:c.-38-2249G>A	NP_001269158.1:n.-38-2249G>A
XM_011546133.1:c.139G>A	XP_011544435.1:p.Gly47Arg
NM_001282225.2:c.139G>A MANE Select	NP_001269154.1:p.Gly47Arg
XM_011546133.2:c.139G>A	XP_011544435.1:p.Gly47Arg
NM_001282226.2:c.139G>A	NP_001269155.1:p.Gly47Arg
NM_001282227.2:c.13G>A	NP_001269156.1:p.Gly5Arg
NM_001282228.2:c.13G>A	NP_001269157.1:p.Gly5Arg
NM_001282229.2:c.-38-2249G>A	NP_001269158.1:n.-38-2249G>A